Cholestasis References

• Emerick and Whitington. Neonatal liver disease. Pediatric annals (2006) vol. 35 (4) pp. 280-6
• Ishak. Inherited metabolic diseases of the liver. Clinics in Liver Disease (2002) vol. 6 (2) pp. 455-79, viii
• Van Mil. Genetics of familial intrahepatic cholestasis syndromes. Journal of Medical Genetics (2005) vol. 42 (6) pp. 449-463
• Teckman. Alpha-1-Antitrypsin Deficiency in Childhood. Semin Liver Dis (2007) vol. 27 (3) pp. 274-281
• Kamath et al. Medical management of Alagille syndrome. J Pediatr Gastroenterol Nutr (2010) vol. 50 (6) pp. 580-6
• Puder et al. Parenteral Fish Oil Improves Outcomes in Patients With Parenteral Nutrition-Associated Liver Injury. Annals of Surgery (2009) vol. 250 (3) pp. 395-402
• McDaniell et al. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet (2006) vol. 79 (1) pp. 169-73
• Kelly and Davenport. Current management of biliary atresia. Arch Dis Child (2007) vol. 92 (12) pp. 1132-1135
• Croffie et al. Tyrosinemia Type 1A Should Be Suspected in Infants With Severe Coagulopathy Even in the Absence of Other Signs of Liver Failure. PEDIATRICS (1999) vol. 103 (3) pp. 675-678
• Heubi et al. Inborn errors of bile acid metabolism. Semin Liver Dis (2007) vol. 27 (3) pp. 282-94
• Moyer et al. Guideline for the evaluation of cholestatic jaundice in infants: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr (2004) vol. 39 (2) pp. 115-28

A Suggested Initial Workup (but not entire workup) for Neonatal Cholestasis (<8 weeks of life)

This is method is used to diagnosis treatable causes of neonatal cholestasis, quickly and accurately. This list is not exhaustive. Other clinical symptoms or signs may point to other workup or therapy that is needed.

1. CBC with Diff, Blood Culture, Urine Culture, Complete Metabolic Panel, GGT, Direct (Conjugated) bilirubin, PT/PTT/INR-rule out infection, coagulopathy, and delineate normal or elevated GGT cholestatic disorder
2. TSH, Free T4-Rule out hypothyroidism (Newborn screen is not adequate)
3. Urine Reducing Substances-Rule out galactosemia
4. Urine Succinylacetone-Rule out tyrosinemia
5. Abdominal Ultrasound-Rule out choledochal cyst or other anatomical abnormality
6. DISIDA/HIDA scan-Pentobarbital is not required. A non excreting study suggests need for liver biopsy. (If above 5 not positive)

 

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